An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare disease characterized by appearance of premature aging, including the skin, bones, heart, and blood vessels caused by LMNA mutation. In this study, the patient presented with congenital micrognathia and progressively aggravated upper a...
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Elsevier
2023-10-01
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| Series: | Heliyon |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844023080659 |
| _version_ | 1797646457687244800 |
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| author | Duojiao Xu Yujiao Guo Zhan Qi Chanjuan Hao Guoxia Yu |
| author_facet | Duojiao Xu Yujiao Guo Zhan Qi Chanjuan Hao Guoxia Yu |
| author_sort | Duojiao Xu |
| collection | DOAJ |
| description | Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare disease characterized by appearance of premature aging, including the skin, bones, heart, and blood vessels caused by LMNA mutation. In this study, the patient presented with congenital micrognathia and progressively aggravated upper airway obstruction as the initial symptom, which required bilateral mandibular distraction osteogenesis (MDO) surgery intervention. This was not commonly described in the literature, and the primary clinical diagnosis of Pierre Robin sequence (PRS) was made. However, other clinical features included sclerotic skin, dry skin, growth failure, lipoatrophy, joint stiffness, prominent scalp veins, small ear lobes, hair loss, and craniofacial disproportion gradually emerged, the diagnosis of HGPS was preferred when the patient was 5 months old. The genetic testing result with a novel and de novo LMNA mutation (c.1968 + 3_1968+6delGAGT) further confirmed the diagnosis and expanded the clinical and mutational spectrum of HGPS. During the 12-month follow-up period after surgery, the patient no longer suffered dyspnea. Complications of other organs and systems have not happened at the moment. In addition, the pathogenesis, the role of LMNA gene mutation, the progress in clinical treatment, and breakthrough studies about genetic treatment in animals of HGPS are described in the literature review. |
| first_indexed | 2024-03-11T15:02:54Z |
| format | Article |
| id | doaj.art-82655a2649b74a139cbb86ef0de3e4cb |
| institution | Directory Open Access Journal |
| issn | 2405-8440 |
| language | English |
| last_indexed | 2024-03-11T15:02:54Z |
| publishDate | 2023-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Heliyon |
| spelling | doaj.art-82655a2649b74a139cbb86ef0de3e4cb2023-10-30T06:07:41ZengElsevierHeliyon2405-84402023-10-01910e20857An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature reviewDuojiao Xu0Yujiao Guo1Zhan Qi2Chanjuan Hao3Guoxia Yu4Department of Stomatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, ChinaDepartment of Stomatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, ChinaBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Rare Disease Center, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, ChinaBeijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Diseases in Children, Rare Disease Center, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, ChinaDepartment of Stomatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China; Corresponding author. Department of Stomatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No.56 Nanlishi Road, Xicheng District, Beijing, 100045, China.Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare disease characterized by appearance of premature aging, including the skin, bones, heart, and blood vessels caused by LMNA mutation. In this study, the patient presented with congenital micrognathia and progressively aggravated upper airway obstruction as the initial symptom, which required bilateral mandibular distraction osteogenesis (MDO) surgery intervention. This was not commonly described in the literature, and the primary clinical diagnosis of Pierre Robin sequence (PRS) was made. However, other clinical features included sclerotic skin, dry skin, growth failure, lipoatrophy, joint stiffness, prominent scalp veins, small ear lobes, hair loss, and craniofacial disproportion gradually emerged, the diagnosis of HGPS was preferred when the patient was 5 months old. The genetic testing result with a novel and de novo LMNA mutation (c.1968 + 3_1968+6delGAGT) further confirmed the diagnosis and expanded the clinical and mutational spectrum of HGPS. During the 12-month follow-up period after surgery, the patient no longer suffered dyspnea. Complications of other organs and systems have not happened at the moment. In addition, the pathogenesis, the role of LMNA gene mutation, the progress in clinical treatment, and breakthrough studies about genetic treatment in animals of HGPS are described in the literature review.http://www.sciencedirect.com/science/article/pii/S2405844023080659Hutchinson-Gilford progeria syndromeLMNA mutationCongenital micrognathiaDyspneaMandibular distraction osteogenesis |
| spellingShingle | Duojiao Xu Yujiao Guo Zhan Qi Chanjuan Hao Guoxia Yu An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review Heliyon Hutchinson-Gilford progeria syndrome LMNA mutation Congenital micrognathia Dyspnea Mandibular distraction osteogenesis |
| title | An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review |
| title_full | An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review |
| title_fullStr | An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review |
| title_full_unstemmed | An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review |
| title_short | An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review |
| title_sort | infant with congenital micrognathia and upper airway obstruction was diagnosed as hutchinson gilford progeria syndrome caused by a novel lmna mutation case report and literature review |
| topic | Hutchinson-Gilford progeria syndrome LMNA mutation Congenital micrognathia Dyspnea Mandibular distraction osteogenesis |
| url | http://www.sciencedirect.com/science/article/pii/S2405844023080659 |
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